Other

What are the symptoms of Rubinstein-Taybi syndrome?

What are the symptoms of Rubinstein-Taybi syndrome?

Symptoms include:

  • Broadening of the thumbs and big toes.
  • Constipation.
  • Excess hair on body (hirsutism)
  • Heart defects, possibly requiring surgery.
  • Intellectual disability.
  • Seizures.
  • Short stature that is noticeable after birth.
  • Slow development of cognitive skills.

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What is the life expectancy of someone with Rubinstein-Taybi syndrome?

The disorder is fatal in children. Life expectancy does not surpass five years of age.

Can Rubinstein-Taybi syndrome be detected before birth?

The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period.

Is Rubinstein-Taybi syndrome a rare disease?

RSTS is a rare disorder that affects males and females in equal numbers. The exact incidence of RSTS is unknown, although a study in the Netherlands estimates the incidence to be between one in 100,000 to one in 125,000 individuals.

What is the cause of Rubinstein-Taybi syndrome?

The syndrome may be caused by a mutation in the CREBBP or EP300 gene , or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16.

Is Rubinstein Taybi syndrome hereditary?

In most affected children, RSTS occurs as the result of a new (de novo) gene mutation, although rarely, the syndrome has been inherited from an affected parent in an autosomal dominant pattern.

Can Rubinstein Taybi syndrome be cured?

t reverses or cures RTS. There are, however, ways to including kidney problems, and dental and speech problems.

What causes Rubinstein-Taybi?

Causes of Rubinstein-Taybi Syndrome are mutations in the CREBBP or EP300 genes. 3 Type 1 of the condition results from a mutation in the EP300 gene, whereas Type 2 of the condition results from a mutation in the CREBBP gene.

Can Rubinstein-Taybi syndrome be cured?